Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Ataxia Telangiectasia
CUI: C0004135
Disease: Ataxia Telangiectasia
698 0.925 0.200 11 108333925 missense variant T/C;G snv 0.700 1.000 22 1995 2017
ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY
CUI: C4017102
Disease: ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY
2 0.925 0.200 11 108333925 missense variant T/C;G snv 0.700 0